+ rare diseases
% genetic origin
+ of people affected

Neuromuscular diseases

These are diseases that affect the muscle or its innervation

They manifest as transient or permanent muscle damage which can appear at any age in life and worsen more or less quickly.

GNE myopathy

GNE myopathy is a rare neuromuscular disease of relatively recent description. It affects a predominantly adult population and is transmitted in an autosomal recessive way.

It causes muscle weakness predominantly in the extremities (distal myopathy), initially affecting, and predominantly, the levator muscles of the feet.

Limb-girdle muscular dystrophy

Myopathy of the girdles is an inherited pathology belonging to the family of muscular dystrophies.

A muscular dystrophy is a pathology, or more exactly a set of rare congenital pathologies which can change a lot from each other.

Spinal Muscular Atrophy

Spinal muscular atrophy is a rare neuromuscular disease. It affects one birth in 6000 and indifferently girls or boys.

It is an inherited genetic disease caused by the degeneration of motor neurons in the spinal cord.

Duchenne Muscular Dystrophy

The disease is caused by a mutation of the gene DMD located at the locus 21.2 of the chromosom X encoding a protein called dystrophin.

Genetic changes responsible for the abnormal functioning of the gene are deletion (responsible for 65% of Duchenne muscular dystrophy and 85% of Becker muscular dystrophy) and duplication (responsible for 6% of Duchenne muscular dystrophy).